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https://www.readbyqxmd.com/read/28929824/size-and-methylation-mosaicism-in-males-with-fragile-x-syndrome
#1
Poonnada Jiraanont, Madhur Kumar, Hiu-Tung Tang, Glenda Espinal, Paul J Hagerman, Randi J Hagerman, Nuanchan Chutabhakdikul, Flora Tassone
OBJECTIVES: Size and methylation mosaicism are a common phenomenon in Fragile X syndrome (FXS). Here, the authors report a study on twelve fragile X males with atypical mosaicism, seven of whom presented with autism spectrum disorder. METHODS: Southern Blot and PCR analysis was used for CGG allele sizing and methylation. FMR1 mRNA and FMRP expression were measured by qRT-PCR and by Homogeneous Time Resolved Fluorescence methodology respectively. RESULTS: DNA analysis showed atypical size- or methylation-mosaicism with both, full mutation and smaller (normal to premutation) alleles, as well as a combination of methylated and unmethylated alleles...
September 20, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28929805/-it-feels-like-something-difficult-is-coming-back-to-haunt-me-an-exploration-of-meltdowns-associated-with-autistic-spectrum-disorder-from-a-parental-perspective
#2
Indiana Montaque, Rudi Dallos, Becky McKenzie
The research explored the experience and understandings expressed by parents of children with autism concerning 'meltdowns', which are commonly described as distressing, escalating episodes of conflicts. Semi-structured interviews were conducted with six parents of children with a diagnosis of autism regarding their experience of 'meltdowns'. Parents were asked to track the process of the meltdowns as well as to describe their experiences. Three over-arching themes emerged which encapsulated their experience: Living in Dread: Anxiety and fear of escalating patterns, Attempting to Correct for Negative Childhood Experiences and Condemnation from the Self and Others...
September 1, 2017: Clinical Child Psychology and Psychiatry
https://www.readbyqxmd.com/read/28929582/the-effectiveness-of-a-psychoeducation-intervention-delivered-via-whatsapp-for-mothers-of-children-with-autism-spectrum-disorder-asd-in-the-kingdom-of-saudi-arabia-a-randomized-controlled-trial
#3
A Hemdi, D Daley
BACKGROUND: Mothers of children with autism spectrum disorder (ASD) report high levels of stress and lower levels of well-being than parents of typically developing children. Current interventions for ASD typically focus on working with the child rather than delivering strategies to help support parents. OBJECTIVE: To evaluate the effectiveness of a psychoeducation intervention developed to support mothers of children with ASD in Saudi Arabia. METHOD: Sixty-two mothers (23-52 years) of children (26-78 months) were recruited to a multisite randomized controlled trials of the intervention...
September 20, 2017: Child: Care, Health and Development
https://www.readbyqxmd.com/read/28929566/protracted-dendritic-growth-in-the-typically-developing-human-amygdala-and-increased-spine-density-in-young-asd-brains
#4
R K Weir, M D Bauman, B Jacobs, C M Schumann
The amygdala is a medial temporal lobe structure implicated in social and emotional regulation. In typical development (TD), the amygdala continues to increase volumetrically throughout childhood and into adulthood, while other brain structures are stable or decreasing in volume. In autism spectrum disorder (ASD), the amygdala undergoes rapid early growth, making it volumetrically larger in children with ASD compared to TD children. Here we explore: 1) if dendritic arborization in the amygdala follows the pattern of protracted growth in TD and early overgrowth in ASD and 2), if spine density in the amygdala in ASD cases differs from TD from youth to adulthood...
September 20, 2017: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/28929487/school-connectedness-and-the-primary-to-secondary-school-transition-for-young-people-with-autism-spectrum-conditions
#5
Judith S Hebron
BACKGROUND: Young people with autism spectrum conditions (ASC) face many educational challenges, particularly in terms of academic achievement, social inclusion, and mental health. School connectedness is linked to many positive outcomes and may be of particular salience at the primary-secondary school transition, when young people with ASC are expected to cope in new and unfamiliar settings. AIMS: This study explores for the first time school connectedness across the primary to secondary school transition for young people with ASC...
September 20, 2017: British Journal of Educational Psychology
https://www.readbyqxmd.com/read/28929296/foster-care-involvement-among-medicaid-enrolled-children-with-autism
#6
Zuleyha Cidav, Ming Xie, David S Mandell
The prevalence and risk of foster care involvement among children with autism spectrum disorder (ASD) relative to children with intellectual disability (ID), children with ASD and ID, and typically developing children were examined using 2001-2007 Medicaid data. Children were followed up to the first foster care placement or until the end of 2007; a discrete time logistic regression analysis was conducted. Both the prevalence and risk of foster care involvement were greatest for children with ASD, and the prevalence increased substantially over the study period among children with ASD...
September 19, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28929285/genomic-disorders-in-psychiatry-what-does-the-clinician-need-to-know
#7
REVIEW
Chelsea Lowther, Gregory Costain, Danielle A Baribeau, Anne S Bassett
PURPOSE OF REVIEW: The purpose of this review is to summarize the role of genomic disorders in various psychiatric conditions and to highlight important recent advances in the field that are of potential clinical relevance. RECENT FINDINGS: Genomic disorders are caused by large rare recurrent deletions and duplications at certain chromosomal "hotspots" (e.g., 22q11.2, 16p11.2, 15q11-q13, 1q21.1, 15q13.3) across the genome. Most overlap multiple genes, affect development, and are associated with variable cognitive and other neuropsychiatric expression...
September 20, 2017: Current Psychiatry Reports
https://www.readbyqxmd.com/read/28929259/vr-employment-outcomes-of-individuals-with-autism-spectrum-disorders-a-decade-in-the-making
#8
Charlotte Y Alverson, Scott H Yamamoto
This study utilized hierarchical linear modeling analysis of a 10-year extant dataset from Rehabilitation Services Administration to investigate significant predictors of employment outcomes for vocational rehabilitation (VR) clients with autism. Predictor variables were gender, ethnicity, attained education level, IEP status in high school, secondary disability status, and total number of VR services. Competitive employment was the criterion variable. Only one predictor variable, Total Number of VR Services, was significant across all 10 years...
September 19, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28928701/teaching-literacy-skills-to-french-minimally-verbal-school-aged-children-with-autism-spectrum-disorders-with-the-serious-game-sema-tic-an-exploratory-study
#9
Sylvie Serret, Stéphanie Hun, Susanne Thümmler, Prescillia Pierron, Andreia Santos, Jérémy Bourgeois, Florence Askenazy
Learning to read is very challenging for children with Autism Spectrum Disorders (ASD), but also very important, as it can give them access to new knowledge. This is even more challenging in minimally verbal children, who do not have the verbal abilities to learn through usual methods. To address the learning of literacy skills in French minimally verbal school-aged children with ASD, we designed the serious game SEMA-TIC, which relies on non-verbal cognitive skills and uses specific learning strategies adapted to the features of autistic individuals...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28928682/differences-in-action-style-recognition-in-children-with-autism-spectrum-disorders
#10
Giuseppe Di Cesare, Laura Sparaci, Annalisa Pelosi, Luigi Mazzone, Giulia Giovagnoli, Deny Menghini, Emanuele Ruffaldi, Stefano Vicari
Vitality form is a term, originally introduced by Stern (2010), to describe "how" an action is performed. The capacity to perceive the vitality form of others' actions is a fundamental element of social interactions and a basic way of relating to and understanding others' behaviors. Although vitality forms characterize all human interactions, few studies have addressed their role in social and communicative disorders such as autism. The aim of the present study is to evaluate the ability to recognize different vitality forms during the observation of different motor actions in a group of children with autism spectrum disorders (ASD) compared to typically developing controls (TD)...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28928645/auditory-motor-mapping-training-in-a-more-verbal-child-with-autism
#11
Karen V Chenausky, Andrea C Norton, Gottfried Schlaug
We tested the effect of Auditory-Motor Mapping Training (AMMT), a novel, intonation-based treatment for spoken language originally developed for minimally verbal (MV) children with autism, on a more-verbal child with autism. We compared this child's performance after 25 therapy sessions with that of: (1) a child matched on age, autism severity, and expressive language level who received 25 sessions of a non-intonation-based control treatment Speech Repetition Therapy (SRT); and (2) a matched pair of MV children (one of whom received AMMT; the other, SRT)...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28928448/intact-animacy-perception-during-chase-detection-in-asd
#12
Steven Vanmarcke, Sander van de Cruys, Pieter Moors, Johan Wagemans
We explored the strength of implicit social inferences in adolescents with and without Autism Spectrum Disorder (ASD) using a chasing paradigm in which participants judged the absence/presence of a chase within a display of four seemingly randomly moving dots. While two of these dots always moved randomly, the two others could fulfill the role of being either the chasing (wolf) or chased (sheep) dot. In the chase-present (but not the chase-absent) trials the wolf displayed chasing behavior defined by the degree to which the dot reliably moved towards the sheep (chasing subtlety)...
September 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28928363/an-autism-spectrum-disorder-related-de-novo-mutation-hotspot-discovered-in-the-gef1-domain-of-trio
#13
Anastasiia Sadybekov, Chen Tian, Cosimo Arnesano, Vsevolod Katritch, Bruce E Herring
The Rho guanine nucleotide exchange factor (RhoGEF) Trio promotes actin polymerization by directly activating the small GTPase Rac1. Recent studies suggest that autism spectrum disorder (ASD)-related behavioral phenotypes in animal models of ASD can be produced by dysregulation of Rac1's control of actin polymerization at glutamatergic synapses. Here, in humans, we discover a large cluster of ASD-related de novo mutations in Trio's Rac1 activating domain, GEF1. Our study reveals that these mutations produce either hypofunctional or hyperfunctional forms of Trio in rodent neurons in vitro...
September 19, 2017: Nature Communications
https://www.readbyqxmd.com/read/28927730/decreased-structural-connectivity-and-resting-state-brain-activity-in-the-lateral-occipital-cortex-is-associated-with-social-communication-deficits-in-boys-with-autism-spectrum-disorder
#14
REVIEW
Minyoung Jung, Yiheng Tu, Courtney Amanda Lang, Ana Ortiz, Joel Park, Kristen Jorgenson, Xue-Jun Kong, Jian Kong
Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized by atypical social communication and repetitive behaviors. In this study, we applied a multimodal approach to investigate brain structural connectivity, resting state activity, and surface area and their associations with the core symptoms of ASD. Data from forty boys with ASD (mean age, 11.5 years; age range, 5.5-19.5) and forty boys with typical development (TD) (mean age, 12.3; age range, 5.8-19.7) were extracted from the Autism Brain Imaging Data Exchange II (ABIDE II) for data analysis...
September 16, 2017: NeuroImage
https://www.readbyqxmd.com/read/28926975/non-invasive-brain-stimulation-for-children-with-autism-spectrum-disorders-a-short-term-outcome-study
#15
Lázaro Gómez, Belkis Vidal, Carlos Maragoto, Lilia Maria Morales, Sheyla Berrillo, Héctor Vera Cuesta, Margarita Baez, Marlén Denis, Tairí Marín, Yaumara Cabrera, Abel Sánchez, Celia Alarcón, Maribel Selguera, Yaima Llanez, Lucila Dieguez, María Robinson
Non-Invasive Brain Stimulation (NIBS) is a relatively new therapeutic approach that has shown beneficial effects in Autism Spectrum Disorder (ASD). One question to be answered is how enduring its neuromodulatory effect could be. Twenty-four patients with ASD (mean age: 12.2 years) received 20 sessions of NIBS over the left dorsolateral prefrontal cortex (L-DLPFC). They were randomized into two groups with two (G1) or three (G2) clinical evaluations before NIBS. Both groups had a complete follow-up at six months after the intervention, with the aim of determining the short-term outcome using the total score on the Autism Behavior Checklist, Autism Treatment Evaluation Checklist, and the Autism Diagnostic Interview...
September 17, 2017: Behavioral Sciences
https://www.readbyqxmd.com/read/28926775/geographic-and-demographic-correlates-of-autism-related-anti-vaccine-beliefs-on-twitter-2009-15
#16
Theodore S Tomeny, Christopher J Vargo, Sherine El-Toukhy
This study examines temporal trends, geographic distribution, and demographic correlates of anti-vaccine beliefs on Twitter, 2009-2015. A total of 549,972 tweets were downloaded and coded for the presence of anti-vaccine beliefs through a machine learning algorithm. Tweets with self-disclosed geographic information were resolved and United States Census data were collected for corresponding areas at the micropolitan/metropolitan level. Trends in number of anti-vaccine tweets were examined at the national and state levels over time...
September 4, 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/28925999/an-evaluation-of-the-effects-of-intensity-and-duration-on-outcomes-across-treatment-domains-for-children-with-autism-spectrum-disorder
#17
E Linstead, D R Dixon, E Hong, C O Burns, R French, M N Novack, D Granpeesheh
Applied behavior analysis (ABA) is considered an effective treatment for individuals with autism spectrum disorder (ASD), and many researchers have further investigated factors associated with treatment outcomes. However, few studies have focused on whether treatment intensity and duration have differential influences on separate skills. The aim of the current study was to investigate how treatment intensity and duration impact learning across different treatment domains, including academic, adaptive, cognitive, executive function, language, motor, play, and social...
September 19, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28925886/the-microbiota-gut-brain-axis-in-neuropsychiatric-disorders-pathophysiological-mechanisms-and-novel-treatments
#18
Yong-Ku Kim, Cheolmin Shin
BACKGROUND: The human gut microbiome comprise a huge number of microorganisms with co-evolutionary associations with humans. It has been repeatedly revealed that bidirectional communication exists between the brain and the gut and involves neural, hormonal, and immunological pathways. Evidences from neuroscience researches over the past few years suggest that microbiota is essential for the development and maturation of brain systems that are associated to stress responses. METHOD: This review provides that the summarization of the communication among microbiota, gut and brain and the results of preclinical and clinical studies on gut microbiota used in treatments for neuropsychiatric disorders...
September 15, 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/28925810/ube3a-mediated-regulation-of-imprinted-genes-and-epigenome-wide-marks-in-human-neurons
#19
S Jesse Lopez, Keith Dunaway, M Saharul Islam, Charles Mordaunt, Annie Vogel Ciernia, Makiko Meguro-Horike, Shin-Ichi Horike, David J Segal, Janine LaSalle
The dysregulation of genes in neurodevelopmental disorders that lead to social and cognitive phenotypes is a complex, multilayered process involving both genetics and epigenetics. Parent-of-origin effects of deletion and duplication of the 15q11-q13 locus leading to Angelman, Prader-Willi, and Dup15q syndromes are due to imprinted genes, including UBE3A, which is maternally expressed exclusively in neurons. UBE3A encodes a ubiquitin E3 ligase protein with multiple downstream targets, including RING1B, which in turn monoubiquitinates histone variant H2A...
September 19, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/28925578/combined-fetal-inflammation-and-postnatal-hypoxia-causes-myelin-deficits-and-autism-like-behavior-in-a-rat-model-of-diffuse-white-matter-injury
#20
Erik van Tilborg, E J Marijke Achterberg, Caren M van Kammen, Annette van der Toorn, Floris Groenendaal, Rick M Dijkhuizen, Cobi J Heijnen, Louk J M J Vanderschuren, Manon N J L Benders, Cora H A Nijboer
Diffuse white matter injury (WMI) is a serious problem in extremely preterm infants, and is associated with adverse neurodevelopmental outcome, including cognitive impairments and an increased risk of autism-spectrum disorders. Important risk factors include fetal or perinatal inflammatory insults and fluctuating cerebral oxygenation. However, the exact mechanisms underlying diffuse WMI are not fully understood and no treatment options are currently available. The use of clinically relevant animal models is crucial to advance knowledge on the pathophysiology of diffuse WMI, allowing the definition of novel therapeutic targets...
September 19, 2017: Glia
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